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Items: 1 to 20 of 173

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096876copy number variation1nstd102humanUncertain significance GRCh37 chr2: 46,525,051-46,851,366 , GRCh38.p12 chr2: 46,297,912-46,624,227 TMEM247, CRIPT, 8 more genes
    nsv7096653copy number variation1nstd102humanUncertain significance GRCh37 chr2: 38,121,051-47,710,088 , GRCh38.p12 chr2: 37,893,908-47,482,949 PLEKHH2, RNU6-566P, 151 more genes
    nsv7039759inversion1nstd229human GRCh38 chr2: 39,986,388-47,339,194 , GRCh37.p13 chr2: 40,213,528-47,566,333 RPL36AP14, CRIPT, 105 more genes
    nsv6671921copy number variation1nstd229human GRCh38 chr2: 46,310,701-46,704,700 , GRCh37.p13 chr2: 46,537,840-46,931,839 SOCS5, LINC02583, 10 more genes
    nsv6670801copy number variation1nstd229human GRCh38 chr2: 46,434,930-46,437,491 , GRCh37.p13 chr2: 46,662,069-46,664,630 LINC02583
    nsv6662390copy number variation1nstd229human GRCh38 chr2: 46,429,343-46,433,413 , GRCh37.p13 chr2: 46,656,482-46,660,552 LINC02583
    nsv6658178copy number variation1nstd229human GRCh38 chr2: 46,406,095-46,429,023 , GRCh37.p13 chr2: 46,633,234-46,656,162 LINC02583
    nsv6634330copy number variation1nstd102humanPathogenic GRCh37 chr2: 11,504,318-111,365,996 , GRCh38.p12 chr2: 11,364,192-110,608,419 CYP1B1-AS1, LOC107985771, 1649 more genes
    nsv6553524inversion1nstd223human GRCh38 chr2: 46,424,240-46,431,404 , GRCh37.p13 chr2: 46,651,379-46,658,543 LINC02583
    nsv6345504copy number variation1nstd223human GRCh38 chr2: 46,441,216-46,441,980 , GRCh37.p13 chr2: 46,668,355-46,669,119 LINC02583
    nsv6337179copy number variation1nstd223human GRCh38 chr2: 46,424,213-46,449,300 , GRCh37.p13 chr2: 46,651,352-46,676,439 LINC02583, RN7SL817P
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6314726copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 40,607,042-146,902,764 , GRCh38.p12 chr2: 40,379,902-146,145,196 ACTG2, ACYP2, 1713 more genes
    nsv6134459copy number variation1nstd213human GRCh37 chr2: 40,080,000-50,820,001 , GRCh38.p12 chr2: 39,852,860-50,592,863 , BCYRN1, 149 more genes
    nsv6134458copy number variation2nstd213human GRCh37 chr2: 38,440,000-47,670,001 , GRCh38.p12 chr2: 38,212,858-47,442,862 ASS1P2, BCYRN1, 144 more genes
    nsv6134457copy number variation1nstd213human GRCh37 chr2: 38,410,000-75,540,001 , GRCh38.p12 chr2: 38,182,858-75,312,875 , ACTG2, 598 more genes
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5450580copy number variation1nstd206human GRCh38 chr2: 46,441,217-46,441,980 , GRCh37.p13 chr2: 46,668,356-46,669,119 LINC02583
    nsv5441909copy number variation1nstd206human GRCh38 chr2: 46,438,468-46,438,551 , GRCh37.p13 chr2: 46,665,607-46,665,690 LINC02583
    nsv5439723copy number variation1nstd206human GRCh38 chr2: 46,441,239-46,513,224 , GRCh37.p13 chr2: 46,668,378-46,740,363 RN7SL817P, ATP6V1E2, 2 more genes
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